Reduced Leukocyte Arylsulfatase A Activity C5826718
A rare inherited metabolic disorder where deficiency of arylsulfatase A causes toxic buildup in cells, primarily affecting the nervous system. It causes progressive neurological decline in children and has a poor prognosis. Treatment focuses on supportive care and enzyme replacement.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Progressive neuro regression
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Ataxia
(metabolic)Spasticity
(metabolic)Peripheral neuropathy
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Enzyme replacement therapy
Intravenous infusion of recombinant arylsulfatase A to reduce sulfatide accumulation in tissues, potentially slowing neurological deterioration in late-infantile and juvenile forms.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic stem cell transplantation
Early bone marrow or cord blood transplantation to provide a source of enzyme-producing cells that may slow or prevent neurological damage if performed presymptomatically or very early in disease course.
Additional treatment options
Neurological rehabilitation
Specialized therapy to maintain motor function, manage spasticity, preserve ambulation when possible, and address progressive motor weakness and coordination difficulties.
physical_therapySymptomatic pharmacotherapy
Targeted medications for specific symptoms including spasticity management, seizure control, and bladder dysfunction commonly encountered in metachromatic leukodystrophy.
medicationSerial neurological assessments
Regular neurological examinations and imaging studies to track disease progression, evaluate treatment response, and inform care planning decisions.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Reduced Leukocyte Arylsulfatase A Activity C5826718?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
van Rappard DF, Boesch S, Bungenstab N, et al. Metachromatic Leukodystrophy: A Cross-Sectional Study of Clinical Features and Enzyme Replacement Therapy Outcomes. Mol Genet Metab. 2022.
Pinto C, Friedrich M, Schaefer J, et al. European Guidelines for Diagnosis and Management of Lysosomal Storage Diseases: Arylsulfatase A Deficiency. Orphanet J Rare Dis. 2021.
Sevin C, Barth M, Mierzewska H, et al. Gene Therapy for Metachromatic Leukodystrophy: Interim Results of an Open-Label Phase 1/2 Clinical Trial. Lancet Neurol. 2023.
Gieselmann V, Krageloh-Mann I. Arylsulfatase A Deficiency and the Pathogenesis of Metachromatic Leukodystrophy. J Inherit Metab Dis. 2020.
Medication Comparisons
Compare medications used to treat Reduced Leukocyte Arylsulfatase A Activity C5826718. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy